Analysis Tools
skeleton
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• club-like deformity is seen in the distal femora
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• pyramidal malformation of the proximal tibiae that increases with age
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• metaphyseal trabecular bone is thickened
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• foreshortening of the long bones
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• widening of the long bones
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• shortened vertebrae especially in the caudal region
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• wider and shorter with thickened cortices and disorganized and expanded growth plates at 8 weeks of age
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• develop increased mineralized bone density later in life, both in membrane and endochondral bones
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• metaphyseal trabecular bone is thickened
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osteopetrosis
(
J:36232
)
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• mild
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• chondrocytes show marked hypertrophy and hyperplasia with increased retention of thicker metaphyseal trabeculae
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• mutants show reduced bone growth
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• osteoclasts evident in epiphyseal growth plates
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• disorganization of the proliferating chondrocytes in the growth plate
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• disordered arrangement of chondrocytes during differentiation
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• thicker and more highly mineralized than in wild-type by 12 weeks of age
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• caudal vertebrae exhibit disorganized and expanded growth plates at 8 weeks of age
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• at 8 weeks of age, bones are less well mineralized in the diaphyseal region than in controls, however older mutants show increased skeletal mineralization in all regions except for dentine
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• at 8 weeks of age, bones are less well mineralized in the diaphyseal region than in controls, indicating that endochondral bone ossification is impaired
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• axial skeleton shows reduced modeling and remodeling activity by osteoclasts
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• abundant osteoclasts invade the epiphyseal growth plates within the disorganized region of modeling and ossification, indicating cell function defect
• absence of osteoclast-specific acid phosphatase activity
• osteoclastic resorption activity is impaired as determined by an in vitro pit assay
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limbs/digits/tail
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• club-like deformity is seen in the distal femora
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• pyramidal malformation of the proximal tibiae that increases with age
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short limbs
(
J:36232
)
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• widened and shortened long bones, particularly prominent in humeri and femora
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• wider and shorter with thickened cortices and disorganized and expanded growth plates at 8 weeks of age
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immune system
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• abundant osteoclasts invade the epiphyseal growth plates within the disorganized region of modeling and ossification, indicating cell function defect
• absence of osteoclast-specific acid phosphatase activity
• osteoclastic resorption activity is impaired as determined by an in vitro pit assay
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hematopoietic system
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• abundant osteoclasts invade the epiphyseal growth plates within the disorganized region of modeling and ossification, indicating cell function defect
• absence of osteoclast-specific acid phosphatase activity
• osteoclastic resorption activity is impaired as determined by an in vitro pit assay
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